Results 191 to 200 of about 579,410 (319)

Aquaporin-4 Regulates Edema, Sustains Astrocyte Differentiation, and Constrains Immunosuppressive Remodeling in Glioblastoma

Heiland, Dieter Henrik
openalex   +1 more source

Prognostic Imaging Biomarkers in Diabetic Macular Edema Treated with Anti-VEGF: A Multicenter AI Perspective [PDF]

Mariacristina Parravano, Lorenzo Ferro Desideri, Eliana Costanzo, Nina Eldridge, Martin Zinkernagel, Rodrigo Anguita, Riccardo Sacconi, Giuseppe Querques   +7 more
openalex   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Sotatercept as a Therapeutic Option for Systemic Sclerosis-Associated Pulmonary Arterial Hypertension With Features of PVOD/PCH. [PDF]

Pulm Circ
Nishioka Y, Imanishi K, Matsuda E, Nakamura W, Shirayanagi R, Ojiro H, Katagiri A.   +6 more
europepmc   +1 more source

In-vivo edema inhibition of Hyoscyamus albus antioxidant extracts rich in calystegines

, 2016
Lynda Bourebaba, Giuseppe Sullini, J. A. Mendiola, Yasmina Bourebaba, Amirouche Deghima, Naima Oukil, Fatiha Bedjou   +6 more
openalex   +2 more sources

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Corneal backscatter as a biomarker for edema severity in Fuchs endothelial corneal dystrophy: a cross-sectional study. [PDF]

Eye Vis (Lond)
Friedrich M, Son HS, Turava LG, Hammer M, Blöck L, Chychko L, Yildirim TM, Auffarth GU, Augustin VA.   +8 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source